EC Number   |
General Information |
Reference |
|---|
   3.4.22.54 | malfunction |
calpain 3 is mutated in limb girdle muscular dystrophy |
732672 |
| 3.4.22.54 | malfunction |
deficiency in calpain 3 is associated with apoptosis as indicated by increases of caspase 3 activity, the absence of calpain 3 modifies the sarcoplasmic reticulum Ca2+ release, by a decrease of the sarcoplasmic reticulum content, an impairment of ryanodine receptor signalling, and an increase of L-type Ca2+ channel activity |
708776 |
| 3.4.22.54 | malfunction |
gene mutations causing CAPN3 defects are responsible for limb-girdle muscular dystrophy type 2A (LGMD2A) |
752852 |
| 3.4.22.54 | malfunction |
inactivating mutations of the CAPN3 gene, encoding the muscle-specific calpain-3, result in the limb-girdle muscular dystrophy-2A |
707560 |
| 3.4.22.54 | malfunction |
limb-girdle muscular dystrophy type 2a arises from mutations in the Ca+-activated intracellular cysteine protease calpain-3 |
754170 |
| 3.4.22.54 | malfunction |
loss of calpain-3 (CAPN3) activity leads to limb-girdle muscular dystrophy 2A. Calpain-3 mediates regulation of the Na+-Ca2+ exchanger isoform 3. The loss of regulation of Na+-Ca2+ exchanger isoform 3 (NCX3) by calpain-3 can be implicated in diverse muscular pathologies such as the limb-girdle muscular dystrophy 2A |
755000 |
| 3.4.22.54 | malfunction |
loss of CAPN3 is 100% specific for limb-girdle muscular dystrophy 2A |
710092 |
| 3.4.22.54 | malfunction |
mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle |
708654 |
| 3.4.22.54 | malfunction |
mutations in calpain 3 underlie limb-girdle muscular dystrophy 2A |
731896 |
| 3.4.22.54 | malfunction |
mutations of calpain 3 cause limb-girdle dystrophy 2A |
732188 |
